Fetal anomalies
Gene: PRRX1

PRRX1 (paired related homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000116132
EnsemblGeneIds (GRCh37): ENSG00000116132
OMIM: 167420, Gene2Phenotype
PRRX1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:38 a.m. | Last Modified: 8 Mar 2022, 10:38 a.m.

Panel Version: 1.838

Comment on list classification: Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'Q4_21_rating' tag)
Created: 3 Nov 2021, 3:42 p.m. | Last Modified: 3 Nov 2021, 3:42 p.m.

Panel Version: 1.786

Comment on mode of inheritance: Setting MOI to 'Monoallelic' for now as 3 unrelated cases of otocephaly with private heterozygous LoF variants have been reported in literature to date, but only one patient with a homozygous alteration. May be reviewed if evidence of further cases emerges.
Created: 3 Nov 2021, 3:41 p.m. | Last Modified: 3 Nov 2021, 3:41 p.m.

Panel Version: 1.785

Created: 3 Nov 2021, 3:41 p.m.
Last Modified: 3 Nov 2021, 3:41 p.m.
Panel version: 1.838

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

At least 4 unrelated cases reported with agnathia-otocephaly complex
Sources: Literature
Created: 29 Oct 2021, 4:12 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Agnathia-otocephaly complex

Publications

Created: 29 Oct 2021, 4:12 p.m.

Panel version: 1.749

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green

Phenotypes

Agnathia-otocephaly complex, OMIM:202650

OMIM

167420

Clinvar variants

Variants in PRRX1

Penetrance

None

Publications

Panels with this gene